ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) (rs112459877)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel, RCV000787981 SCV000927004 likely benign Usher syndrome, type 2A 2019-05-14 reviewed by expert panel curation The c.14276G>A (p.Gly4759Glu) variant has been detected in at least 4 heterozygous individuals with clinical features of hearing loss or retinitis pigmentosa (PS4/PM3 not met; Partners LMM internal data, PMID 28041643). However, the filtering allele frequency (the lower threshold of the 95% CI of 102/24022) of the p.Gly4759Glu variant in the USH2A gene is 0.425% for African chromosomes by gnomAD, which is a high enough frequency to be classified as likely benign based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BS1).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154570 SCV000204243 likely benign not specified 2013-04-05 criteria provided, single submitter clinical testing The Gly4759Glu variant in USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 0.34% (15/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs112459877).
Counsyl RCV000669868 SCV000794661 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-10 criteria provided, single submitter clinical testing
Invitae RCV000908911 SCV001053695 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505103 SCV000598791 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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